AI Article Synopsis
- * This same genetic duplication in NR5A1 has been previously linked to similar symptoms in other boys, indicating a recurring issue.
- * Deletions in the same area of the NR5A1 gene relate to conditions in 46,XX patients, highlighting its critical role in the function of SF-1 protein in gonadal development and its susceptibility to genetic changes.
Article Abstract
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements.
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| http://dx.doi.org/10.1159/000485909 | DOI Listing |
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